Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001858452 | SCV002289996 | pathogenic | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 30 of the TG gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (no rsID available, gnomAD 0.006%). Disruption of this splice site has been observed in individuals with clinical features of congenital hypothyroidism (PMID: 7593451, 11484898, 16720658, 23457313). ClinVar contains an entry for this variant (Variation ID: 684547). Studies have shown that disruption of this splice site results in skipping of exon 30, but is expected to preserve the integrity of the reading-frame (PMID: 7593451, 11484898, 23457313). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV002223175 | SCV000033776 | pathogenic | Iodotyrosyl coupling defect | 1995-11-01 | no assertion criteria provided | literature only | |
Genome |
RCV000845082 | SCV000986930 | not provided | Congenital hypothyroidism | no assertion provided | phenotyping only | Variant interpretted as Likely pathogenic and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |